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A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease
- Source :
- Neuroscience letters, 398 (2006): 53–58. doi:10.1016/j.neulet.2005.12.038, info:cnr-pdr/source/autori:Saltini, G; Dominici, R; Lovati, C; Cattaneo, M; Michelini, S; Malferrari, G; Caprera, A; Milanesi, L; Finazzi, D; Bertora, P; Scarpini, E; Galimberti, D; Venturelli, E; Musicco, M; Adorni, F; Mariani, C; Biunno, I/titolo:A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease/doi:10.1016%2Fj.neulet.2005.12.038/rivista:Neuroscience letters (Print)/anno:2006/pagina_da:53/pagina_a:58/intervallo_pagine:53–58/volume:398
- Publication Year :
- 2006
- Publisher :
- Elsevier BV, 2006.
-
Abstract
- Alzheimer's disease (AD) is considered to be a conformational disease arising from the accumulation of misfolded and unfolded proteins in the endoplasmic reticulum (ER). SEL1L is a component of the ER stress degradation system, which serves to remove unfolded proteins by retrograde degradation using the ubiquitin-proteosome system. In order to identify genetic variations possibly involved in the disease, we analysed the entire SEL1L gene sequence in Italian sporadic AD patients. Here we report on the identification of a new polymorphism within the SEL1L intron 3 (IVS3-88 A>G), which contains potential binding sites for transcription factors involved in ER-induced stress. Our statistical analysis shows a possible role of the novel polymorphism as independent susceptibility factor of Alzheimer's dementia. (C) 2005 Published by Elsevier Ireland Ltd.
- Subjects :
- Male
medicine.medical_specialty
Disease
Biology
polymorphism
Alzheimer Disease
Internal medicine
Genetic variation
medicine
Humans
Dementia
Genetic Predisposition to Disease
genetics
Transcription factor
Aged
Genetics
Polymorphism, Genetic
General Neuroscience
Endoplasmic reticulum
Intron
Proteins
Alzheimer's disease
SEL1L
medicine.disease
Introns
ER-associated degradation (ERAD)
Endocrinology
Unfolded protein response
Female
Subjects
Details
- ISSN :
- 03043940
- Volume :
- 398
- Database :
- OpenAIRE
- Journal :
- Neuroscience Letters
- Accession number :
- edsair.doi.dedup.....e19c9d17ae09d89d2fb32de4e79022c9